A carregar...
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome
Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have...
Na minha lista:
| Main Authors: | , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2011
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3214947/ https://ncbi.nlm.nih.gov/pubmed/22140376 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000328135 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|